rs267606890
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
rs267606890
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
|
14705112 |
2004 |
rs267606890
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
|
11456298 |
2001 |
rs267606891
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
rs267606891
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
|
17152068 |
2007 |
rs267606891
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
|
14705112 |
2004 |
rs267606891
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
|
11456298 |
2001 |
rs267606892
|
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs387906422
|
|
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
|
19188198 |
2009 |
rs794726857
|
|
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs193302933
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs199476113
|
|
MELAS Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.
|
1323207 |
1992 |
rs199476134
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.
|
7726182 |
1995 |
rs267606611
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|